Hundreds of adults and teenagers in England with Leber's hereditary optic neuropathy (LHON) will gain access to the first targeted NHS treatment for their rare inherited eye disease, following NICE's recommendation of idebenone (Raxone) in final draft guidance published today. The approval marks a significant milestone for approximately 250 eligible patients and ends a longstanding access disparity within the UK.
Treatment Availability and Implementation
NHS England will provide idebenone within three months of NICE publishing final guidance, bringing England in line with Scotland, Wales, and Northern Ireland, where the drug has been available for several years. The treatment involves taking two tablets three times daily and is approved for people aged 12 and over with LHON.
"England is now in line with the rest of the United Kingdom with idebenone now available through the NHS," commented Professor Patrick Yu-Wai-Man, a consultant neuro-ophthalmologist at the University of Cambridge, Moorfields Eye Hospital, and the UCL Institute of Ophthalmology. "This will come as a great relief to the LHON community in this country, bringing hope to those who have experienced significant visual loss from this mitochondrial genetic disorder."
Disease Impact and Current Care
LHON is caused by mutations in genes coding for mitochondrial DNA that prevent cells in the eye from producing the energy needed to function normally. The condition typically begins with painless blurring of central vision in one or both eyes, often progressing rapidly to blindness in both eyes within months. It primarily affects young men and boys, particularly males between ages 15 and 35, with devastating consequences for independence, education, and employment prospects.
Currently, standard care consists only of nutritional supplements, genetic counselling, and lifestyle management advice, including avoiding smoking and alcohol, with no licensed medicines available to address the underlying causes of LHON.
Mechanism of Action and Clinical Evidence
Idebenone, manufactured by Chiesi and marketed as Raxone, works by restoring cells' ability to produce energy, allowing inactive eye cells to function again and potentially improving eyesight. Clinical evidence from the RHODOS, LEROS, and PAROS trials demonstrates that the treatment can improve vision and reduce the deterioration of people's eyesight.
"The evidence shows this treatment could improve people's eyesight and help their quality of life by allowing them to live independently for longer," noted a NICE representative.
Patient Community Response
The LHON Society expressed strong support for the decision. "The effects of LHON reach deeply into the lives of patients, their families, caregivers, as well as individuals who carry the LHON genes. Patients often experience loss of independence, with everyday tasks often becoming exceptionally challenging or even unmanageable," said a spokesperson for the organization.
The society added that they are "delighted that idebenone has been recommended for use," noting that this represents "a critical step towards full access to idebenone for patients."
Future Treatment Landscape
While idebenone represents the first approved treatment for LHON, another potential therapy may be on the horizon. GenSight Biologics' gene therapy Lumevoq (lenadogene nolparvovec) was granted a promising innovative medicine designation from the UK medicines regulator MHRA in 2021, though the company withdrew its European application for approval in 2023 and continues exploring pathways to patient access.
The treatment will be available through a confidential commercial arrangement with a patient access scheme that provides the NHS with a discount, ensuring cost-effective access to this breakthrough therapy for the LHON community in England.
